WHAT IS BENT BONE DYSPLASIA?

Children diagnosed with the condition often have low-set ears, widely spaced eyes and a small chin.

The condition is associated with mutations in the FGFR2 gene.

It is so rare, Ms Mathurin said she is only aware of one other case in Canada.

'I got a second opinion, and the most conclusive observation was that Louis was going to be short. That was enough for me to decide - I wasn’t going to have an abortion on that basis alone.

'I was fiercely protective over him even though he hadn’t arrived yet. I wanted to do everything I could.'

Louis was born two months prematurely on November 18, 2011. The delivery room was filled with 15 medical staff as Ms Mathurin gave birth.

She said: 'All I wanted to do was see my child. I heard a short cry when he came out, then silence, then another cry.

'A doctor explained Louis wasn’t breathing properly and needed to be taken away for urgent treatment. I felt numb - we didn’t know if he was going to make it.

'After two hours I was able to see him in the high-dependency ward. Louis looked very unusual.

'At a later scan they realised that his cranium had healed at the back but the top was open, leaving him with an odd-shaped head.

Ms Mathurin said: 'When I first saw him I noticed his head was severely misshapen. I felt instant love. I didn't care in the slightest what he looked like - I just wanted him to be well'

'I instantly felt a powerful love for him. I knew it was my responsibility to make sure he was well.'

Louis was to stay in hospital for seven months as doctors ascertained what condition he had.

They eventually diagnosed bent bone dysplasia syndrome, a non-genetic, often fatal disorder of the skeleton which affects his whole body.

In his early months he would have a series of life-saving operations, including the installation of a cranial shunt and feeding tube and two head expansions.

'I felt instant love. I felt a powerless sense of protectiveness from the very first moment'

- Nina Mathurin

Ms Mathurin said: 'Every bone in Louis’ body is malformed. It affects everything - from his mobility to his breathing.

'I don’t know of any other child in the country who has it. I believe there’s another family in Canada but I don’t think the child has the cranial-facial problems Louis has.'

Ms Mathurin attends appointments with Louis every three months for checks and is observant for any worrying changes.

She said: 'I don’t know if Louis’ condition will damage his brain or is life-limiting, which is why it’s important that we enjoy every day together as much as we can. He’s been through so much in his life already.

'He’s the happiest child you can imagine. He’s very affectionate and sociable, and brings a lot of joy to my life.

Louis, pictured shortly after he was born, had a series of life-saving operations in his first few months, having a shunt fitted in his brain to drain fluid, a feeding tube inserted and two head expansion operations

'I don’t have any regrets about having him. Sometimes people don’t realise how different my life is now - going out without Louis takes a lot of planning. But I don’t regret having him for a moment. I knew I made the right decision not to have a termination.'

Ms Mathurin now volunteers at Great Ormond Street Hospital to support and advise families with children facing disabilities or major surgery.

She said: 'When expectant parents are facing tough choices, what they usually hear are people - friends and family - telling them that they shouldn’t burden themselves with disabled children.

'But that’s not the way to look at life. You could have a perfectly healthy child and, heaven forbid, there could be illness or an accident.

'Would I have been comfortable knowing that I got rid of Louis without giving him a chance? No. That’s how I know I made the right choice.

'I encouraged two parents to let their children have tracheostomies. They were terrified, but showed them Louis and how, despite his challenges, he’s fine.

'Having a community of people around you makes that kind of journey a bit easier. It’s easier to talk to parents about the challenges than nurses.'

Ms Mathurin has found support from Great Ormond Street Hospital and Shooting Star respite services. To support Shooting Star visit their website here.